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Spectrum: Autism Research News

Tag: Angelman syndrome

September 2013

Genome-editing tools compose new models of autism

by  /  5 September 2013

Thanks to a suite of new tools based on synthetic biology, it’s now possible to quickly and cheaply insert autism-linked mutations into living cells in the lab.

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August 2013

Molecular mechanisms: Rett, Angelman genes work together

by  /  13 August 2013

The genes involved in Rett and Angelman syndromes may collaborate to regulate the expression of other proteins, according to a study published 19 July in Biochemical and Biophysical Research Communications. This may explain the overlap in symptoms between the two disorders, the researchers say.

July 2013

Genetics: Levels of regulatory gene crucial for development

by  /  9 July 2013

Duplication of a chromosomal region that includes the autism-linked gene MBD5 leads to intellectual disability, language impairment and autism-like symptoms, according to a study published 1 May in the European Journal of Human Genetics.

April 2013

Angelman syndrome drug shows promise in mouse study

by  /  29 April 2013

Two weeks of treatment with a cancer drug called topotecan boosts expression for a year of the gene that’s deficient in Angelman syndrome, according to unpublished mouse research presented 20 March at the New York Academy of Sciences.

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How can an experimental Angelman drug be so specific?

by  /  29 April 2013

A candidate drug for Angelman syndrome shows promise in activating the gene silenced in people with the disorder, and only that gene. Why doesn’t it unsilence other genes?

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Study clarifies link between 15q duplication and autism

by  /  4 April 2013

Children who carry an extra copy of the 15q11-13 region of the genome usually have autism and sleep troubles, as well as distinctive brain-wave patterns and facial features, according to a report published 14 March in Autism Research.

January 2013

Exploring enigmatic links between mitochondria and autism

by  /  8 January 2013

Mitochondrial deficits may account for the range of symptoms and neurological deficits seen in autism and explain why it preferentially affects boys, says Douglas Wallace.

December 2012

Benjamin Philpot: Managing risks to reap big rewards

by  /  20 December 2012

Smart risk management has propelled Benjamin Philpot from one adventure to another, whether it’s attempting unusual drug screens, learning to rock climb or taking his family to see volcanoes in Chile. His optimism and scientific vigor have led to discoveries for the rare Angelman syndrome, and for the wider autism spectrum.

November 2012

Clinical research: Chromosome 15’s twisted links to autism

by  /  6 November 2012

Two new case studies highlight how complex rearrangements of chromosome 15 can lead to different disorders, including autism and the related Prader-Willi syndrome.

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October 2012

Stem cells reveal genes that have parental bias

by  /  31 October 2012

Researchers have used stem cells to identify 801 neuronal genes that are preferentially expressed from either the maternal or paternal chromosome, according to a study published 30 August in PLoS One. Of these genes, 26 are linked to autism and 48 to schizophrenia.